Product Details
- SNP ID
-
rs150872006
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:47716667 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACGGGGCCAGCAGCCCGAGGCCATC[C/T]GCACGGTGACCTCGGCCCTCAAGGA
- Phenotype
-
MIM: 605890
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
EHD2
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs61746407] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- EHD2
- Gene Name
- EH domain containing 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_014601.3 |
305 |
Missense Mutation |
CGC,TGC |
R19C |
NP_055416.2 |
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